Type 1e Demyelinating Charcot-Marie-Tooth Disease

Also Known As:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e; Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant; Cmt1e

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

1.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
2.	Tomaculous neuropathy

Drugs and Important Biological Agents (IBA) related to Type 1e Demyelinating Charcot-Marie-Tooth Disease:

1.	Myelin ProteinsIBA 07/01/2015 - "Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E). " 12/01/2012 - "We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. " 01/01/2022 - "Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. "
2.	Mutant Proteins (Protein, Mutant)IBA 01/01/2017 - "In addition, we provide experimental evidence for endoplasmic reticulum retention of the mutant protein suggesting a gain-of-function mutational mechanism consistent with the observed CMT1E in this family. "